Background

Agenesis of the corpus callosum is a rare congenital brain malformation that can be associated with other cerebral malformations and/or underlying genetic causes. Prenatal counseling is hampered due to the lack of reliable long-term data on neurodevelopmental outcome.

Methods

Since 2010, a total of 23 children with agenesis of the corpus callosum (mean age 3.8 years, range 0.7 to 9.7 years) were registered in our ACC outpatient clinic and diagnosed in a standardized manner; the data were analyzed retrospectively. Prenatal and postnatal imaging, associated malformations, genetic and clinical findings, and psychological testing (Bayley Scales, Kaufman Assessment Battery for Children II, Snijders-Oomen Non-verbal Test, Wechsler Preschool and Primary Scale I-III) were included. The clinical outcome was classified as “normal” (intelligence quotient 85 to 115, unremarkable motor skills), “moderate developmental delay” (intelligence quotient 70 to 85, mild motor abnormalities), and “severe developmental delay” (intelligence quotient <70, severe movement disorder).

Results

Isolated corpus callosum malformation was diagnosed in 15 of 23 (65%), associated cerebral malformations in four of 23 (17%), and associated cerebral malformations plus intracranial cyst in four of 23 (17%) children. Prenatal diagnosis changed in nine of 23 (39%) cases. Overall, a normal outcome or moderate or severe developmental delay was present in 15 of 23 (65%) or five of 23 (22%) or three of 23 (13%) children, respectively. Also six of eight children with associated cerebral malformations showed normal outcome.

Conclusion

Our findings support the notion that developmental outcome is favorable in about two-thirds of children with prenatally diagnosed agenesis of corpus callosum. However, the individual outcome in children with agenesis of corpus callosum is difficult to predict. Even children with correctly characterized phenotypes show a variety of outcomes, making prenatal counseling challenging.

中文翻译：

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胼胝体发育不全儿童的临床结果。

背景

胼胝体发育不全是一种罕见的先天性脑畸形，可能与其他脑畸形和/或潜在的遗传原因有关。由于缺乏关于神经发育结果的可靠长期数据，产前咨询受到阻碍。

方法

2010年以来，在我院ACC门诊登记并规范诊断胼胝体发育不全患儿23例（平均年龄3.8岁，范围0.7～9.7岁）；数据进行了回顾性分析。包括产前和产后成像、相关畸形、遗传和临床发现以及心理测试（贝利量表、Kaufman 儿童评估电池 II、Snijders-Oomen 非语言测试、Wechsler 学龄前和初级量表 I-III）。临床结果分为“正常”（智商 85 至 115，无明显运动技能）、“中度发育迟缓”（智商 70 至 85，轻度运动异常）和“严重发育迟缓”（智商 <70，严重的运动障碍）。

结果

23 名儿童中有 15 名 (65%) 被诊断为孤立性胼胝体畸形，23 名儿童中有 4 名 (17%) 被诊断为相关脑畸形，23 名儿童中有 4 名 (17%) 被诊断为相关脑畸形和颅内囊肿。23 例 (39%) 病例中有 9 例产前诊断发生了变化。总体而言，23 名儿童中有 15 名 (65%) 或 23 名儿童中的 5 名 (22%) 或 23 名儿童中的 3 名 (13%) 出现正常结果或中度或重度发育迟缓。此外，8 名患有相关脑畸形的儿童中有 6 名表现正常。

结论

我们的研究结果支持这样的观点，即大约三分之二的产前诊断为胼胝体发育不全的儿童的发育结果是有利的。然而，胼胝体发育不全儿童的个体结果很难预测。即使具有正确表征的表型的儿童也会表现出多种结果，这使得产前咨询具有挑战性。